Osteogenesis imperfecta (OI) is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones. It is caused by mutations in the collagen, type I, alpha 1 and collagen type I alpha 2 genes, which encode the alpha 1 and the alpha 2 chain of type I procollagen, respectively. Molecular genetic studies have detected more than 150 mutations of these genes. Other mutations have been identified in the leucine proline‑enriched proteoglycan 1, cartilage associated protein and peptidyl‑proly lisomerase B genes.
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